Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Item
http://www.wikidata.org/entity/Q46690747
Functions of the RNA Editing Enzyme ADAR1 and Their Relevance to Human DiseasesDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyNeuroinflammation - using big data to inform clinical practice.Neuromyelitis optica in a child with Aicardi-Goutières syndrome.Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeThe Enemy within: Innate Surveillance-Mediated Cell Death, the Common Mechanism of Neurodegenerative Disease.Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overviewMusculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
P2860

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Item
http://www.wikidata.org/entity/Q46690747
description
2014 nî lūn-bûn
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2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
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2014年學術文章
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2014年學術文章
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name
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@en
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@nl
type
label
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@en
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@nl
prefLabel
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@en
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698